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Variant : CV248062 (GRCh37/hg19 3p25.3-25.2(chr3:8922160-12338637)x1) Homo sapiens

Symbol: CV248062
Name: GRCh37/hg19 3p25.3-25.2(chr3:8922160-12338637)x1
Condition: See cases [RCV000240139]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ARPC4   ARPC4-TTLL3   ATG7   ATP2B2   BRK1   BRPF1   CAMK1   CIDEC   CPNE9   CRELD1   EMC3   FANCD2   FANCD2OS   GHRL   GHRLOS   HRH1   IL17RC   IL17RE   IRAK2   JAGN1   LHFPL4   MTMR14   OGG1   PPARG   PRRT3   RAD18   RPUSD3   SEC13   SETD5   SLC6A1   SLC6A11   SRGAP3   SYN2   TADA3   TAMM41   TATDN2   THUMPD3   TIMP4   TTLL3   VGLL4   VHL  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh3738,922,160 - 12,338,637CLINVAR
Cytogenetic Map33p25.3-25.2CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 11541585
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.